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rs72549331

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 1 likely to be an unaffected carrier of a trimethylaminuria allele
(T;T) 2 trimethylaminuria & related issues; see discussion
ReferenceGRCh38 38.1/141
Chromosome1
Position171114339
GeneFMO3
is asnp
is mentioned by
dbSNPrs72549331
ebirs72549331
HLIrs72549331
Exacrs72549331
Varsomers72549331
Maprs72549331
PheGenIrs72549331
hapmaprs72549331
1000 genomesrs72549331
hgdprs72549331
ensemblrs72549331
gopubmedrs72549331
geneviewrs72549331
scholarrs72549331
googlers72549331
pharmgkbrs72549331
gwascentralrs72549331
openSNPrs72549331
23andMers72549331
23andMe allrs72549331
SNP Nexus

SNPshotrs72549331
SNPdbers72549331
MSV3drs72549331
GWAS Ctlgrs72549331
GMAF0.0004591
Max Magnitude2
rs72549331, also known as Arg387Leu, is a SNP in the FMO3 gene. The homozygous minor genotype has been reported in a patient with trimethylaminuria.[PMID 10479479]
OMIM136132
Desc
Variant0007
Relatedalso
ClinVar
Risk rs72549331(A,T;A,T)
Alt rs72549331(A,T;A,T)
Reference rs72549331(G;G)
Significance Pathogenic
Disease Trimethylaminuria
Variation info
Gene FMO3
CLNDBN Trimethylaminuria
Reversed 0
HGVS NC_000001.10:g.171083479G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017704.29,